Conditions / Syndrome
Hermansky-Pudlak syndrome 2
info · Syndrome
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
Signs and symptoms
- Epicanthus
- Mild intellectual disability
- Long philtrum
- Acetabular dysplasia
- Fair hair
- Gastroesophageal reflux
- Hepatomegaly
- Prolonged bleeding time
- Coarse facial features
- Motor delay